"GeneDx"[submitter] AND "NBN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1216199	NM_002485.5(NBN):c.*316A>G	NBN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 363909	NM_002485.5(NBN):c.*273G>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GBenign
Select item 422212	NM_002485.5(NBN):c.2_3del	NBN	Deletion (3 prime UTR variant)	not specified	GLikely benign
Select item 1314071	NM_002485.5(NBN):c.2260A>C (p.Arg754=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 183886	NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	NBN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 480044	NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	NBN (Y746* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 416883	NM_002485.5(NBN):c.2235-8C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 182710	NM_002485.5(NBN):c.2235-18C>T	NBN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 392290	NM_002485.5(NBN):c.2235-19C>T	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 679702	NM_002485.5(NBN):c.2235-172C>T	NBN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210935	NM_002485.5(NBN):c.2235-220_2235-218del	NBN	Deletion (intron variant)	not provided	GLikely benign
Select item 679760	NM_002485.5(NBN):c.2234+157A>G	NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232508	NM_002485.5(NBN):c.2234+88C>G	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 393075	NM_002485.5(NBN):c.2234+17C>T	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 380129	NM_002485.5(NBN):c.2234+14C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 390706	NM_002485.5(NBN):c.2234+12T>C	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 185026	NM_002485.5(NBN):c.2234+2T>G	NBN	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 136043	NM_002485.5(NBN):c.2220T>C (p.Ala740=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 391097	NM_002485.5(NBN):c.2217T>C (p.Leu739=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182730	NM_002485.5(NBN):c.2215C>G (p.Leu739Val)	NBN (L739V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GUncertain significance
Select item 422616	NM_002485.5(NBN):c.2210_2211del (p.Glu737fs)	NBN (E737fs +1 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 136042	NM_002485.5(NBN):c.2202A>G (p.Ala734=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GBenign/Likely benign
Select item 530748	NM_002485.5(NBN):c.2198A>G (p.His733Arg)	NBN (H733R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 136041	NM_002485.5(NBN):c.2196A>G (p.Gln732=)	NBN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 127866	NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr)	NBN (N731Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186646	NM_002485.5(NBN):c.2190A>G (p.Gln730=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 389750	NM_002485.5(NBN):c.2187A>G (p.Val729=)	NBN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 511606	NM_002485.5(NBN):c.2185-15T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 676644	NM_002485.5(NBN):c.2185-122T>C	NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272514	NM_002485.5(NBN):c.2184+311C>G	NBN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203920	NM_002485.5(NBN):c.2184+304G>A	NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222104	NM_002485.5(NBN):c.2184+228A>C	NBN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265305	NM_002485.5(NBN):c.2184+200dup	NBN	Duplication (intron variant)	not provided	GBenign
Select item 1245949	NM_002485.5(NBN):c.2184+200_2184+201dup	NBN	Duplication (intron variant)	not provided	GBenign
Select item 1272779	NM_002485.5(NBN):c.2184+214del	NBN	Deletion (intron variant)	not provided	GBenign
Select item 1223501	NM_002485.5(NBN):c.2184+209_2184+214del	NBN	Deletion (intron variant)	not provided	GLikely benign
Select item 1177037	NM_002485.5(NBN):c.2184+123G>A	NBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 182709	NM_002485.5(NBN):c.2184+8G>C	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 233424	NM_002485.5(NBN):c.2184+1G>T	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 1205493	NM_002485.5(NBN):c.2183A>G (p.Glu728Gly)	NBN (E646G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 925004	NM_002485.5(NBN):c.2174A>G (p.Gln725Arg)	NBN (Q643R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 391010	NM_002485.5(NBN):c.2172G>A (p.Arg724=)	NBN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 650429	NM_002485.5(NBN):c.2165G>C (p.Trp722Ser)	NBN (W722S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 422497	NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)	NBN (E721* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 219765	NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup)	NBN	Duplication (inframe_insertion)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 232256	NM_002485.5(NBN):c.2151A>G (p.Thr717=)	NBN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 387378	NM_002485.5(NBN):c.2149A>G (p.Thr717Ala)	NBN (T717A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 127865	NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)	NBN (T717S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 134874	NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)	NBN (N716D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GBenign/Likely benign
Select item 461541	NM_002485.5(NBN):c.2141G>A (p.Arg714Gln)	NBN (R714Q +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GUncertain significance
Select item 480065	NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)	NBN (R714G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 182737	NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	NBN (R714* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 184232	NM_002485.5(NBN):c.2139T>C (p.Ala713=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GLikely benign
Select item 186356	NM_002485.5(NBN):c.2134C>A (p.His712Asn)	NBN (H712N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 385201	NM_002485.5(NBN):c.2122C>T (p.Leu708=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GLikely benign
Select item 182728	NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	NBN (S706* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 234736	NM_002485.5(NBN):c.2108_2109dup (p.Gly704fs)	NBN (G704fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1313164	NM_002485.5(NBN):c.2102A>G (p.His701Arg)	NBN (H619R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964995	NM_002485.5(NBN):c.2099del (p.Pro700fs)	NBN (P618fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 947932	NM_002485.5(NBN):c.2099C>T (p.Pro700Leu)	NBN (P618L +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 946955	NM_002485.5(NBN):c.2083G>A (p.Gly695Arg)	NBN (G695R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 140767	NM_002485.5(NBN):c.2082T>G (p.Pro694=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 411767	NM_002485.5(NBN):c.2075C>T (p.Thr692Ile)	NBN (T692I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2430779	NM_002485.5(NBN):c.2074A>G (p.Thr692Ala)	NBN (T610A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 230924	NM_002485.5(NBN):c.2071-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia +3 more	GLikely pathogenic
Select item 185152	NM_002485.5(NBN):c.2071-1G>C	NBN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 219601	NM_002485.5(NBN):c.2071-4A>G	NBN	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 258769	NM_002485.5(NBN):c.2071-30A>T	NBN	Single nucleotide variant (intron variant)	Acute lymphoid leukemia +4 more	GBenign
Select item 1226117	NM_002485.5(NBN):c.2071-61A>T	NBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1216853	NM_002485.5(NBN):c.2070+212T>A	NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229768	NM_002485.5(NBN):c.2070+33T>C	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 387897	NM_002485.5(NBN):c.2070+18A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 516370	NM_002485.5(NBN):c.2070+15T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 492110	NM_002485.5(NBN):c.2070+13A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GBenign/Likely benign
Select item 461537	NM_002485.5(NBN):c.2070+7A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GBenign/Likely benign
Select item 234238	NM_002485.5(NBN):c.2070+4G>A	NBN	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1318457	NM_002485.5(NBN):c.2070+1G>T	NBN	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 127864	NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)	NBN (K690Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220509	NM_002485.5(NBN):c.2037T>C (p.Tyr679=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GLikely benign
Select item 182727	NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)	NBN (D677N +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 183696	NM_002485.5(NBN):c.2016A>G (p.Pro672=)	NBN	Single nucleotide variant (synonymous variant)	Acute lymphoid leukemia +5 more	GBenign
Select item 127863	NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)	NBN (S667P +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +5 more	GConflicting classifications of pathogenicity
Select item 389678	NM_002485.5(NBN):c.1998C>T (p.Asn666=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 183863	NM_002485.5(NBN):c.1989G>A (p.Val663=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 184121	NM_002485.5(NBN):c.1986G>A (p.Leu662=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 216567	NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)	NBN (R660T +1 more)	Single nucleotide variant (missense variant)	NBN-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 370663	NM_002485.5(NBN):c.1974del (p.Glu658fs)	NBN (E576fs)	Deletion (frameshift variant)	Aplastic anemia +3 more	GPathogenic/Likely pathogenic
Select item 141979	NM_002485.5(NBN):c.1973A>G (p.Glu658Gly)	NBN (E658G +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GUncertain significance
Select item 1311504	NM_002485.5(NBN):c.1952C>G (p.Pro651Arg)	NBN (P569R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 461530	NM_002485.5(NBN):c.1941T>A (p.Ser647Arg)	NBN (S647R +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GUncertain significance
Select item 480032	NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr)	NBN (D645Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 423758	NM_002485.5(NBN):c.1933G>A (p.Asp645Asn)	NBN (D645N +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 383703	NM_002485.5(NBN):c.1932G>A (p.Gln644=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 187411	NM_002485.5(NBN):c.1919A>G (p.Asn640Ser)	NBN (N640S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 681142	NM_002485.5(NBN):c.1915-6T>C	NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258768	NM_002485.5(NBN):c.1915-7A>G	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 488774	NM_002485.5(NBN):c.1915-8C>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 422452	NM_002485.5(NBN):c.1914+18_1914+21del	LOC126860438, NBN	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

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